University of Toronto, Toronto, Canada.
Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Canada.
Eur J Hum Genet. 2022 May;30(5):595-603. doi: 10.1038/s41431-021-00876-z. Epub 2021 Mar 29.
Most secondary genomic findings (SFs) fall in the scope of primary care practice. However, primary care providers' (PCPs) capacity to manage these findings is not well understood. We explored PCPs' views and experiences of managing SFs through a qualitative study. PCPs participated in semi-structured interviews about SFs from a patient in their practice or a hypothetical patient. The interpretive descriptive methodology was used to analyze transcripts thematically through constant comparison. Fifteen family physicians from Ontario, Canada participated (ten females; 6-40 years in practice across community and academic settings). PCPs made sense of SFs through the lens of actionability: they actively looked for clinical relevance by considering a wide range of immediate and future actions, including referrals, genetic testing, screening, lifestyle changes, counseling about family planning, informing family members, future medication choice, increased vigilance/surveillance, and managing results in the electronic medical record. PCPs saw clinical actionability as the main benefit mitigating the potential harms of learning SFs, namely patient anxiety and unnecessary investigations. PCPs conceptualized actionability more broadly than it is traditionally defined in medical genetics. Further research will be needed to determine if PCPs' emphasis on actionability conflicts with patients' expectations of SFs and if it leads to overutilization of healthcare resources.
大多数二级基因组发现(SFs)都属于初级保健实践的范畴。然而,初级保健提供者(PCPs)管理这些发现的能力还不太清楚。我们通过一项定性研究探讨了 PCPs 管理 SFs 的看法和经验。PCPs 参加了关于他们实践中的患者或假设患者的 SFs 的半结构化访谈。采用解释性描述方法通过不断比较对转录本进行主题分析。来自加拿大安大略省的 15 名家庭医生参加了(10 名女性;6-40 年在社区和学术环境中的实践经验)。PCPs 通过可操作性的视角来理解 SFs:他们通过考虑广泛的即时和未来行动,包括转介、基因测试、筛查、生活方式改变、关于计划生育的咨询、告知家庭成员、未来的药物选择、增加警惕/监测以及在电子病历中管理结果,积极寻找临床相关性。PCPs 认为临床可操作性是减轻了解 SFs 潜在危害(即患者焦虑和不必要的调查)的主要好处。PCPs 将可操作性的概念化比医学遗传学中传统定义的更广泛。需要进一步研究以确定 PCPs 对可操作性的重视是否与患者对 SFs 的期望相冲突,以及是否导致医疗资源的过度利用。